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Women's healthcare providers' knowledge and practices surrounding fragile-X associated primary ovarian insufficiency (FXPOI).
J Assist Reprod Genet
December 2024
Department of Human Genetics, Emory University School of Medicine, 615 Michael St. Suite 301, Atlanta, GA, 30322, USA.
Purpose: This study investigates the knowledge gaps about fragile X-associated primary ovarian insufficiency (FXPOI) among women's healthcare providers. Previous research highlighted a lack of awareness regarding FXPOI as a cause of primary ovarian insufficiency (POI) and its diagnosis. The objective of this study was to describe these gaps and explore demographic factors influencing FXPOI knowledge in women's healthcare practitioners.
View Article and Find Full Text PDFParkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.
Mol Genet Genomic Med
November 2024
Department of Biochemistry and Molecular Medicine, University of California, Davis, California, USA.
Background: Premutation alleles of the FMR1 X-linked gene containing CGG repeat expansions ranging from 55 to 200 are associated with diverse late-onset neurological involvements, including most severe disorder termed Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). It is intriguing that at least one-third of male, and a much lower than predicted from the X-linkage proportion of female carriers are free of this syndrome. This suggests the existence of secondary genetic factors modifying the risk of neurological involvements in these carriers.
View Article and Find Full Text PDFMR-Guided Focused Ultrasound for the Treatment of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome.
Mov Disord Clin Pract
November 2024
Department of Neurology, Complejo Hospitalario Universitario, Santiago de Compostela, Spain.
Contribution of DNA/RNA Structures Formed by Expanded CGG/CCG Repeats Within the FMR1 Locus in the Pathogenesis of Fragile X-Associated Disorders.
Wiley Interdiscip Rev RNA
November 2024
Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Poznan, Poland.
Repeat expansion disorders (REDs) encompass over 50 inherited neurological disorders and are characterized by the expansion of short tandem nucleotide repeats beyond a specific repeat length. Particularly intriguing among these are multiple fragile X-associated disorders (FXds), which arise from an expansion of CGG repeats in the 5' untranslated region of the FMR1 gene. Despite arising from repeat expansions in the same gene, the clinical manifestations of FXds vary widely, encompassing developmental delays, parkinsonism, dementia, and an increased risk of infertility.
View Article and Find Full Text PDFPrevalence and implications of fragile X premutation screening in Thailand.
Sci Rep
November 2024
Division of Molecular Pathology, Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.
The fragile X premutation is a public health concern worldwide. Implementing a comprehensive screening program for FMR1 premutation alleles could empower individuals and families with information, supporting informed health decisions and potentially reducing the incidence of fragile X syndrome (FXS). This study aimed to determine the prevalence of FMR1 premutations in the Thai population.
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